BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 36140569)

  • 1. Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.
    Nicola AG; Carsote M; Gheorghe AM; Petrova E; Popescu AD; Staicu AN; Țuculină MJ; Petcu C; Dascălu IT; Tircă T
    Diagnostics (Basel); 2022 Sep; 12(9):. PubMed ID: 36140569
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
    Ladjouze A; Donaldson M; Plotton I; Djenane N; Mohammedi K; Tardy-Guidollet V; Mallet D; Boulesnane K; Bouzerar Z; Morel Y; Roucher-Boulez F
    Front Endocrinol (Lausanne); 2022; 13():867073. PubMed ID: 35757411
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
    Guran T; Kara C; Yildiz M; Bitkin EC; Haklar G; Lin JC; Keskin M; Barnard L; Anik A; Catli G; Guven A; Kirel B; Tutunculer F; Onal H; Turan S; Akcay T; Atay Z; Yilmaz GC; Mamadova J; Akbarzade A; Sirikci O; Storbeck KH; Baris T; Chung BC; Bereket A
    J Clin Endocrinol Metab; 2020 Mar; 105(3):. PubMed ID: 31950145
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
    Mermejo LM; Elias LL; Marui S; Moreira AC; Mendonca BB; de Castro M
    J Clin Endocrinol Metab; 2005 Mar; 90(3):1287-93. PubMed ID: 15585552
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
    Simard J; Moisan AM; Morel Y
    Semin Reprod Med; 2002 Aug; 20(3):255-76. PubMed ID: 12428206
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease.
    Aslaksen S; Methlie P; Vigeland MD; Jøssang DE; Wolff AB; Sheng Y; Oftedal BE; Skinningsrud B; Undlien DE; Selmer KK; Husebye ES; Bratland E
    Front Endocrinol (Lausanne); 2019; 10():648. PubMed ID: 31611844
    [No Abstract]   [Full Text] [Related]  

  • 7. Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the
    Fanis P; Neocleous V; Kosta K; Karipiadou A; Hartmann MF; Wudy SA; Karantaglis N; Papadimitriou DT; Skordis N; Tsikopoulos G; Phylactou LA; Roilides E; Papagianni M
    J Pediatr Endocrinol Metab; 2021 Jan; 34(1):131-136. PubMed ID: 33180036
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.
    Leka-Emiri S; Taibi L; Mavroeidi V; Vlachopapadopoulou EA; Kafetzi M; Michalacos S; de Roux N
    Sex Dev; 2022; 16(1):64-69. PubMed ID: 34628416
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.
    Lutfallah C; Wang W; Mason JI; Chang YT; Haider A; Rich B; Castro-Magana M; Copeland KC; David R; Pang S
    J Clin Endocrinol Metab; 2002 Jun; 87(6):2611-22. PubMed ID: 12050224
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history.
    Yu L; Chen P; Zhu W; Sun J; Li S
    BMC Pediatr; 2021 Sep; 21(1):405. PubMed ID: 34526000
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity.
    Shehab MA; Mahmood T; Hasanat MA; Fariduddin M; Ahsan N; Hossain MS; Hossain MS; Jahan S
    Endocrinol Diabetes Metab Case Rep; 2018 Oct; 2018(1):18-0108. PubMed ID: 30328339
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol.
    Miller WL
    Horm Res Paediatr; 2019; 91(6):416-420. PubMed ID: 31450227
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
    Al Alawi AM; Nordenström A; Falhammar H
    Endocrine; 2019 Mar; 63(3):407-421. PubMed ID: 30719691
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Screening for testicular adrenal rest tumors among children with congenital adrenal hyperplasia at King Fahad Medical City, Saudi Arabia.
    Huneif MA; Al Mutairi M; AlHazmy ZH; AlOsaimi FK; AlShoomi AM; AlGhofely MA; AlSaheel A
    J Pediatr Endocrinol Metab; 2022 Jan; 35(1):49-54. PubMed ID: 34757702
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Congenital adrenal hyperplasia].
    Stanić M; Nesović M
    Med Pregl; 1999; 52(11-12):447-54. PubMed ID: 10748766
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.
    Baquedano MS; Ciaccio M; Marino R; Perez Garrido N; Ramirez P; Maceiras M; Turjanski A; Defelipe LA; Rivarola MA; Belgorosky A
    J Clin Endocrinol Metab; 2015 Jan; 100(1):E191-6. PubMed ID: 25322271
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.
    Jeandron DD; Sahakitrungruang T
    Horm Res Paediatr; 2012; 77(5):334-8. PubMed ID: 22343390
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.
    Donadille B; Houang M; Netchine I; Siffroi JP; Christin-Maitre S
    Endocr Connect; 2018 Mar; 7(3):395-402. PubMed ID: 29420188
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.
    Araújo VG; Oliveira RS; Gameleira KP; Cruz CB; Lofrano-Porto A
    Arq Bras Endocrinol Metabol; 2014 Aug; 58(6):650-5. PubMed ID: 25211449
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.
    Li Z; Liang Y; Du C; Yu X; Hou L; Wu W; Ying Y; Luo X
    BMC Endocr Disord; 2021 Nov; 21(1):237. PubMed ID: 34823514
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.